Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2005 2009
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553176976
rs1553176976 		0.925 0.080 1 17018936 frameshift variant -/AGCT delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553176976
rs1553176976 		0.925 0.080 1 17018936 frameshift variant -/AGCT delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1553176976
rs1553176976 		0.925 0.080 1 17018936 frameshift variant -/AGCT delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1553176979
rs1553176979 		0.925 0.080 1 17018938 frameshift variant -/C ins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1553176979
rs1553176979 		0.925 0.080 1 17018938 frameshift variant -/C ins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1553176979
rs1553176979 		0.925 0.080 1 17018938 frameshift variant -/C ins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1557738304
rs1557738304 		0.925 0.080 1 17018943 frameshift variant -/C delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1557738304
rs1557738304 		0.925 0.080 1 17018943 frameshift variant -/C delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1557738304
rs1557738304 		0.925 0.080 1 17018943 frameshift variant -/C delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1557741425
rs1557741425 		0.925 0.080 1 17028623 frameshift variant -/C delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1557741425
rs1557741425 		0.925 0.080 1 17028623 frameshift variant -/C delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1557741425
rs1557741425 		0.925 0.080 1 17028623 frameshift variant -/C delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1553177688
rs1553177688 		1.000 0.080 1 17027843 frameshift variant -/CCATA ins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1209914140
rs1209914140 		0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1209914140
rs1209914140 		0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1209914140
rs1209914140 		0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs794728947
rs794728947 		0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs794728947
rs794728947 		0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs794728947
rs794728947 		0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs794728947
rs794728947 		0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1553179337
rs1553179337 		1 17053977 stop gained -/GCAACCGGCGCCTCAAGGAGAGGGCG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2013 2013